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Mismatch DNA repair mRNA expression profiles in oral melanin pigmentation lesion and hamartomatous polyp of a child with peutz–jeghers syndrome
Author(s) -
Vageli Dimitra P.,
Doukas Sotirios G.,
Markou Andreas
Publication year - 2013
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.24579
Subject(s) - medicine , peutz–jeghers syndrome , lesion , biopsy , pathology
Abstract Mismatch DNA repair (MMR) mRNA expression analysis was performed on a biopsy of oral mucosa melanin pigmentation lesion, a hamartomatous polyp and peripheral blood derived from a 12‐year‐old child with Peutz–Jeghers Syndrome (PJS). We present a deficient MMR system, in a PJS patient, which demonstrated low mRNA levels of hMSH6 and hPMS2 and an increasing MMR deficiency from the non‐dysplastic lesion to hamartomatous polyp of PJS with a high risk of cancer. Pediatr Blood Cancer 2013;60:E116–E117. © 2013 Wiley Periodicals, Inc.